PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
J Lauriol, MI Kontaridis - Trends in cardiovascular medicine, 2011 - Elsevier
In this review, we focus on elucidating the cardiac function of germline mutations in the
PTPN11 gene, encoding the Src homology-2 (SH2) domain–containing protein tyrosine
phosphatase SHP2. PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan
syndrome (NS), two disorders that are part of a newly classified family of autosomal
dominant syndromes termed “RASopathies,” which are caused by germline mutations in
components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway. LS and …
PTPN11 gene, encoding the Src homology-2 (SH2) domain–containing protein tyrosine
phosphatase SHP2. PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan
syndrome (NS), two disorders that are part of a newly classified family of autosomal
dominant syndromes termed “RASopathies,” which are caused by germline mutations in
components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway. LS and …